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ABSTRACT: IntroductionWe aimed to identify injury-related risk factors for secondary cataract incidence after eye and brain injury and polytrauma. We also examined the effect of direct and indirect eye injury management on cataract diagnosis and treatment. Prevention or mitigation strategies require knowledge of the causes and types of combat injuries, which will enable more appropriate targeting of resources toward prevention and more efficient management of such injuries. MATERIALS AND METHODS: Data were gathered from the Military Health System using the Military Health System Management and Analysis Reporting Tool (M2) between 2017 and 2021 from inpatient and outpatient Service Members (SMs) (active duty and National Guard). The date of the first cataract diagnosis was tracked to estimate the annual incidence rate, and it was longitudinally linked to any prior diagnosis of ocular trauma (OT), traumatic brain injury (TBI), or polytrauma to calculate the relative risk. International Classification of Disease codes, 10th Revision, were used to identify those diagnosed with cataracts, TBI, and polytrauma. Defense and Veterans Eye Injury and Vision Registry data were used to examine SMs who sustained ocular injuries from 2003-2020 and who may have had cataract surgery following a cataract diagnosis. RESULTS: The relative risk of traumatic cataract formation from OT, TBI, and polytrauma are 5.71 (95% CI, 5.05-6.42), 2.32 (95% CI, 2.03-2.63), and 8.95 (95% CI, 6.23-12.38), respectively. Traumatic cataracts in SMs more commonly result from open-globe injuries (70%) than closed-globe injuries (30%). By specific sub-injury type, traumatic cataracts occur most frequently from intraocular foreign bodies (22%). More than 400 patients in the cohort suffered from TBI and traumatic cataracts, more than 300 from OT and cataracts, and more than 20 from polytrauma and cataracts. The battlefield is the riskiest environment for trauma exposure, with 62% of OT occurring in combat. There was a statistically significant difference between the mean visual acuity value before cataract surgery (M = 1.17, SD = 0.72) and the mean visual acuity value after cataract surgery (M = 0.44, SD = 0.66, P < .001). CONCLUSION: Traumatic cataracts often occur in SMs who sustain ocular injuries. New to the literature is that relationships exist between traumatic cataract formation and nonglobe trauma, specifically TBI and polytrauma. Ocular injury calls for an ophthalmic examination. A low threshold should exist for routine ocular exam consultation in the setting of TBI and polytrauma. Separately, polytrauma patients should undergo a review of systems questions, particularly questions about the ocular and visual pathways. A positive response to screening warrants further investigation of possible ocular pathology, including traumatic cataract formation. Cataract surgery is an effective treatment in improving the vision of SMs who suffer from traumatic cataracts. Constant effort must be made to limit occurrences of occupation-related traumatic cataracts.
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This study was designed to identify the pathogenic variants in five Ukrainian families with autosomal dominant congenital cataracts. Cataracts can be defined broadly as any opacity of the crystalline lens. Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes, including the lens crystallins, are associated with congenital cataracts and other eye diseases. Whole-exome sequencing identified heterozygous disease-causing variants in five Ukrainian families with autosomal dominant congenital cataracts and cosegregation with cataracts was confirmed using Sanger sequencing. Family 97001 showed a missense variant (c.341T>A: p.L114Q) in HSF4; family 97003 showed a missense variant (c.53A>T: p.N18I) in CRYGA; family 97004 showed a missense variant (c. 82G>A: p.V28M) in GJA3; family 97006 showed a missense variant (c.83C>T: p. P28L) in CRYGC; and family 97008 showed a single-base insertion resulting in a frameshift (c.443_444insA: p. Met148IfsTer51) in PAX6. All five families are associated with congenital cataracts. Overall, we report four novel mutations in HSF4, CRYGA, CRYGC and PAX6, and one previously reported mutation in GJA3 that cause autosomal dominant congenital cataracts.